Canonical Allele Identifier: CA355382017
Gene: EIF2B5 HGNC NCBI

Linked Data

Genomic Alleles

HGVS Genome Assembly
NC_000003.12:g.184137766T>G , CM000665.2:g.184137766T>G GRCh38
NC_000003.11:g.183855554T>G , CM000665.1:g.183855554T>G GRCh37
NC_000003.10:g.185338248T>G NCBI36
NG_015826.1:g.7745T>G

Transcript Alleles

HGVS Amino-acid Change
ENST00000465218.3:n.490T>G
ENST00000468748.7:n.450T>G
ENST00000484154.2:n.1088T>G
ENST00000491008.6:n.1215T>G
ENST00000492226.2:n.464T>G
ENST00000492773.6:c.199T>G
ENST00000647636.1:c.467T>G ENSP00000497505.1:p.Ile156Ser
ENST00000647909.1:c.467T>G ENSP00000498164.1:p.Ile156Ser
ENST00000648145.1:c.235T>G
ENST00000648189.1:c.217T>G
ENST00000648256.1:c.416T>G ENSP00000497356.1:p.Ile139Ser
ENST00000648314.1:c.467T>G ENSP00000496920.1:p.Ile156Ser
ENST00000648599.1:c.467T>G ENSP00000497159.1:p.Ile156Ser
ENST00000648630.1:c.461T>G ENSP00000497887.1:p.Ile154Ser
ENST00000648682.1:c.467T>G ENSP00000498185.1:p.Ile156Ser
ENST00000648882.1:c.*293T>G ENSP00000497603.1:n.*293T>G
ENST00000648890.1:c.467T>G ENSP00000497503.1:p.Ile156Ser
ENST00000648915.2:c.467T>G MANE Select ENSP00000497160.1:p.Ile156Ser
ENST00000649545.1:c.201T>G
ENST00000649688.1:c.467T>G ENSP00000497097.1:p.Ile156Ser
ENST00000649814.1:n.516T>G
ENST00000650244.1:c.612T>G ENSP00000497227.1:n.612T>G
ENST00000650270.1:c.334T>G
ENST00000273783.7:c.467T>G ENSP00000273783.3:p.Ile156Ser
ENST00000432982.5:c.245+1091T>G
ENST00000444495.1:c.467T>G ENSP00000409142.1:p.Ile156Ser
ENST00000481054.5:n.468T>G
ENST00000491008.5:n.431T>G
ENST00000491144.5:n.815T>G
ENST00000498831.1:n.422T>G
NM_003907.2:c.467T>G NP_003898.2:p.Ile156Ser
XR_924208.1:n.1418T>G
NM_003907.3:c.467T>G MANE Select NP_003898.2:p.Ile156Ser
XM_011513266.3:c.-435T>G XP_011511568.1:n.-435T>G
XR_001740352.2:n.830T>G
XR_001740353.2:n.830T>G
XR_924208.2:n.830T>G